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There are 6675 results for: content related to: Identification of two new mutations in TRPS 1 gene leading to the tricho-rhino-phalangeal syndrome type I and III

  1. Clinical and molecular characterization of a patient with Langer–Giedion syndrome and mosaic del(8)(q22.3q24.13)

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 24, 15 December 2008, Pages: 3211–3216, Alan L. Shanske, Ankita Patel, Sou Saukam, Brynn Levy and Hermann-Josef Lüdecke

    Article first published online : 14 NOV 2008, DOI: 10.1002/ajmg.a.32615

  2. Pronounced short stature in a girl with tricho-rhino-phalangeal syndrome II (TRPS II, Langer–Giedion syndrome) and growth hormone deficiency

    American Journal of Medical Genetics Part A

    Volume 131A, Issue 2, 1 December 2004, Pages: 200–203, S. Riedl, A. Giedion, K. Schweitzer, A. Müllner-Eidenböck, F. Grill, H. Frisch and H.-J. Lüdecke

    Article first published online : 2 NOV 2004, DOI: 10.1002/ajmg.a.30374

  3. Missense mutation of TRPS1 in a family of tricho-rhino-phalangeal syndrome type III

    American Journal of Medical Genetics

    Volume 107, Issue 1, 1 January 2002, Pages: 26–29, Hiromasa Kobayashi, Megumu Hino, Makiko Shimodahira, Toshio Iwakura, Takashi Ishihara, Katsuji Ikekubo, Yoshihiro Ogawa, Kazuwa Nakao and Hiroyuki Kurahachi

    Article first published online : 23 OCT 2001, DOI: 10.1002/ajmg.10081

  4. Myofascial Trigger Points, Pain, Disability, and Sleep Quality in Patients with Chronic Nonspecific Low Back Pain

    Pain Medicine

    Volume 14, Issue 12, December 2013, Pages: 1964–1970, Juan J. Iglesias-González, María T. Muñoz-García, Daiana P. Rodrigues-de-Souza, Francisco Alburquerque-Sendín and César Fernández-de-las-Peñas

    Article first published online : 15 AUG 2013, DOI: 10.1111/pme.12224

  5. GC79/TRPS1 and tumorigenesis in humans

    American Journal of Medical Genetics Part A

    Volume 134A, Issue 3, 30 April 2005, Pages: 341–343, Hiromasa Kobayashi, Megumu Hino, Tatsuhide Inoue, Eiji Nii, Kaori Ikeda, Cheol Son, Toshio Iwakura, Takashi Ishihara and Yoshihiro Ogawa

    Article first published online : 2 FEB 2005, DOI: 10.1002/ajmg.a.30596

  6. Partial growth hormone deficiency and changed bone quality and mass in type I trichorhinophalangeal syndrome

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 12, 15 June 2008, Pages: 1598–1604, Stefano Stagi, Giuseppe Bindi, Fiorella Galluzzi, Elisabetta Lapi, Roberto Salti and Francesco Chiarelli

    Article first published online : 13 MAY 2008, DOI: 10.1002/ajmg.a.32348

  7. Third case of 8q23.3-q24.13 deletion in a patient with Langer–Giedion syndrome phenotype without TRPS1 gene deletion

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 3, March 2012, Pages: 659–663, Nina Pereza, Srećko Severinski, Saša Ostojić, Marija Volk, Aleš Maver, Kristina Baraba Dekanić, Miljenko Kapović and Borut Peterlin

    Article first published online : 7 FEB 2012, DOI: 10.1002/ajmg.a.35201

  8. Trigger points and myofascial pain: toward understanding how they affect headaches

    Cephalalgia

    Volume 18, Issue 7, September 1998, Pages: 436–448, RA Davidoff

    Article first published online : 7 JUL 2008, DOI: 10.1111/j.1468-2982.1998.1807436.x

  9. You have full text access to this OnlineOpen article
    Vascular actions of thrombin receptor-derived polypeptides: structure-activity profiles for contractile and relaxant effects in rat aorta

    British Journal of Pharmacology

    Volume 114, Issue 8, April 1995, Pages: 1680–1686, Adebayo A. Laniyonu and Morely D. Hollenberg

    Article first published online : 19 JUL 2012, DOI: 10.1111/j.1476-5381.1995.tb14957.x

  10. You have full text access to this OnlineOpen article
    Contractile actions of thrombin receptor-derived polypeptides in human umbilical and placental vasculature: evidence for distinct receptor systems

    British Journal of Pharmacology

    Volume 115, Issue 4, June 1995, Pages: 569–578, Jean Tay-Uyboco, Man-Chiu Poon, Sultan Ahmad and Morley D. Hollenberg

    Article first published online : 19 JUL 2012, DOI: 10.1111/j.1476-5381.1995.tb14970.x

  11. You have free access to this content
    Transient receptor potential cation channels in visceral sensory pathways

    British Journal of Pharmacology

    Volume 171, Issue 10, May 2014, Pages: 2528–2536, L Ashley Blackshaw

    Article first published online : 28 APR 2014, DOI: 10.1111/bph.12641

  12. Trichorhinophalangeal syndrome with low expression of TRPS1 on epidermal and hair follicle epithelial cells

    The Journal of Dermatology

    Volume 40, Issue 5, May 2013, Pages: 396–398, Taisuke Ito, Yutaka Shimomura, Muhammad Farooq, Noriko Suzuki, Jun-Ichi Sakabe and Yoshiki Tokura

    Article first published online : 4 MAR 2013, DOI: 10.1111/1346-8138.12111

  13. Tricho-rhino-phalangeal syndrome without exostoses, with an interstitial deletion of 8q23

    Clinical Genetics

    Volume 29, Issue 5, May 1986, Pages: 434–438, J. Goldblatt and R. D. Smart

    Article first published online : 23 APR 2008, DOI: 10.1111/j.1399-0004.1986.tb00517.x

  14. Contiguous Gene Syndromes as Multiple Anomalies Syndromes: Molecular Basis and Approach to Gene Cloning

    Congenital Anomalies

    Volume 30, Issue 4, December 1990, Pages: 317–333, Norio NIIKAWA

    Article first published online : 2 MAY 2008, DOI: 10.1111/j.1741-4520.1990.tb00193.x

  15. A novel mutation in exon 7 in a family with mild tricho–rhino–phalangeal syndrome type I

    Clinical Genetics

    Volume 63, Issue 2, February 2003, Pages: 166–167,

    Article first published online : 10 MAR 2003, DOI: 10.1034/j.1399-0004.2003.00024.x

  16. Another family with tricho-rhino-phalangeal syndrome type III (Sugio-Kajii syndrome)

    American Journal of Medical Genetics

    Volume 49, Issue 3, 1 February 1994, Pages: 278–280, Toshiro Nagai, Gen Nishimura, Hideaki Kasai, Tomonobu Hasegawa, Rumiko Kato, Hirofumi Ohashi and Yoshimitu Fukushima

    Article first published online : 7 JUN 2005, DOI: 10.1002/ajmg.1320490307

  17. A familial case of tricho-rhino-phalangeal syndrome type III with a novel missense mutation in exon 6 of the TRPS1 gene

    Journal of the European Academy of Dermatology and Venereology

    Volume 24, Issue 5, May 2010, Pages: 612–614, A Sendi-Naderi, H-J Lüdecke, S Unger, JS Kern, G Wolff, L Bruckner-Tuderman and D Nashan

    Article first published online : 16 SEP 2009, DOI: 10.1111/j.1468-3083.2009.03444.x

  18. Trichorhinophalangeal syndrome type II due to a novel 8q23.3-q24.12 deletion associated with imperforate hymen and vaginal stenosis

    British Journal of Dermatology

    Accepted manuscript online: 7 JUN 2014, L. Plaza-Benhumea, J.M. Valdes-Miranda, J. Toral-López, A. Pérez-Cabrera and S. Cuevas-Covarrubias

    DOI: 10.1111/bjd.13177

  19. 537 MUSCLE TRIGGER POINTS IN SUBJECTS WITH FIBROMYALGIA SYNDROME: PRELIMINARY RESULTS

    European Journal of Pain

    Volume 13, Issue S1, September 2009, Pages: S158b–S158, C. Fernández-De-Las-Penãs, C. Alonso-Blanco, J. Fernández-Carnero, P. Zarco and M. Flórez-Garcia

    Article first published online : 12 JAN 2012, DOI: 10.1016/S1090-3801(09)60540-1

  20. 538 MYOFASCIAL TRIGGER POINTS IN SUBJECTS WITH WHIPLASH SYNDROME: A PILOT STUDY

    European Journal of Pain

    Volume 13, Issue S1, September 2009, Pages: S158c–S159, A. Fernández-Pérez, C. Fernández-De-Las-Penãs, J. Fernández-Carnero, M. Arroyo-Morales, C. Villaverde-Gutiérrez and C. Moreno-Lorenzo

    Article first published online : 12 JAN 2012, DOI: 10.1016/S1090-3801(09)60541-3